Canonical Allele Identifier: CA410912932

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146041720
• MyVariant Identifiers: chr22:g.24175770T>C (hg19) ; chr22:g.23833583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833583T>C , CM000684.2:g.23833583T>C	GRCh38
NC_000022.10:g.24175770T>C , CM000684.1:g.24175770T>C	GRCh37
NC_000022.9:g.22505770T>C	NCBI36
NG_009303.1:g.51621T>C , LRG_520:g.51621T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.860T>C	ENSP00000263121.8:p.Leu287Pro
ENST00000344921.11:c.1025T>C	ENSP00000340883.6:p.Leu342Pro
ENST00000407422.8:c.971T>C	ENSP00000383984.3:p.Leu324Pro
ENST00000477836.2:n.2149T>C
ENST00000644036.2:c.998T>C MANE Select	ENSP00000494049.2:p.Leu333Pro
ENST00000644462.1:c.1716T>C	ENSP00000494283.1:n.1716T>C
ENST00000645799.1:n.2320T>C
ENST00000646723.1:n.3344T>C
ENST00000647057.1:c.*492T>C	ENSP00000494757.1:n.*492T>C
ENST00000263121.11:c.998T>C	ENSP00000263121.7:p.Leu333Pro
ENST00000344921.10:c.1025T>C	ENSP00000340883.6:p.Leu342Pro
ENST00000407082.3:c.860T>C	ENSP00000385226.3:p.Leu287Pro
ENST00000407422.7:c.971T>C	ENSP00000383984.3:p.Leu324Pro
NM_001007468.1:c.971T>C	NP_001007469.1:p.Leu324Pro
NM_003073.3:c.998T>C , LRG_520t1:c.998T>C	NP_003064.2:p.Leu333Pro
XM_011530345.1:c.1052T>C	XP_011528647.1:p.Leu351Pro
XM_011530346.1:c.1025T>C	XP_011528648.1:p.Leu342Pro
NM_001007468.2:c.971T>C	NP_001007469.1:p.Leu324Pro
NM_001317946.1:c.1025T>C	NP_001304875.1:p.Leu342Pro
NM_001362877.1:c.1052T>C	NP_001349806.1:p.Leu351Pro
NM_003073.4:c.998T>C	NP_003064.2:p.Leu333Pro
NM_001007468.3:c.971T>C	NP_001007469.1:p.Leu324Pro
NM_001317946.2:c.1025T>C	NP_001304875.1:p.Leu342Pro
NM_001362877.2:c.1052T>C	NP_001349806.1:p.Leu351Pro
NM_003073.5:c.998T>C MANE Select	NP_003064.2:p.Leu333Pro